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Acute Intermittent Porphyria in children: A case report and review of the literature.
Balwani, Manisha; Singh, Preeti; Seth, Anju; Debnath, Ekta Malik; Naik, Hetanshi; Doheny, Dana; Chen, Brenden; Yasuda, Makiko; Desnick, Robert J.
Affiliation
  • Balwani M; Department of Genetics and Genomic Science, Icahn School of Medicine at Mount Sinai, United States.
  • Singh P; Department of Pediatrics, Kalawati Saran Children's Hospital, Lady Hardinge Medical College, India.
  • Seth A; Department of Pediatrics, Kalawati Saran Children's Hospital, Lady Hardinge Medical College, India.
  • Debnath EM; Department of Biochemistry, Kalawati Saran Children's Hospital, Lady Hardinge Medical College, India.
  • Naik H; Department of Genetics and Genomic Science, Icahn School of Medicine at Mount Sinai, United States.
  • Doheny D; Department of Genetics and Genomic Science, Icahn School of Medicine at Mount Sinai, United States.
  • Chen B; Department of Genetics and Genomic Science, Icahn School of Medicine at Mount Sinai, United States.
  • Yasuda M; Department of Genetics and Genomic Science, Icahn School of Medicine at Mount Sinai, United States.
  • Desnick RJ; Department of Genetics and Genomic Science, Icahn School of Medicine at Mount Sinai, United States. Electronic address: robert.desnick@mssm.edu.
Mol Genet Metab ; 119(4): 295-299, 2016 12.
Article in En | MEDLINE | ID: mdl-27769855
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Full text: 1 Database: MEDLINE Main subject: Hydroxymethylbilane Synthase / Seizures / Porphyria, Acute Intermittent / Heme Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Child / Female / Humans / Male Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2016 Type: Article Affiliation country: United States
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Full text: 1 Database: MEDLINE Main subject: Hydroxymethylbilane Synthase / Seizures / Porphyria, Acute Intermittent / Heme Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Child / Female / Humans / Male Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2016 Type: Article Affiliation country: United States